A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522041



Internal ID22391459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151777918..151777918hg38UCSC Ensembl
chr5:151157479..151157479hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399927
SamplesNA19240
Known GenesG3BP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3522041
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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